rs2236514

This variant is located in the AGPAT2 gene.

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GWAS Catalog Trait Associations (7)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

1-docosapentaenoyl-GPC (22:5n3) measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele C
OR 0.10
p 2.0e-20
N 14,296
Large GWAS
European

1-stearoyl-2-docosapentaenoyl-GPC (18:0/22:5n3) measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele C
OR 0.09
p 2.0e-16
N 14,296
Large GWAS
European

1-docosapentaenoyl-GPC (22:5n6) measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele C
OR 0.09
p 2.0e-13
N 14,296
Large GWAS
European

docosahexaenoic acid measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.01
p 6.0e-13
N 450,015
Large GWAS
multi-ancestry

1-adrenoyl-GPC (22:4) measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele C
OR 0.08
p 1.0e-12
N 14,296
Large GWAS
European

phosphatidylcholine (16:0/22:5n3, 18:1/20:4) measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele C
OR 0.08
p 3.0e-12
N 14,296
Large GWAS
European

level of Phosphatidylcholine (16:0_22:5) in blood serum

Ottensmann L et al. “Genome-wide association analysis of plasma lipidome identifies 495 genetic associations.” Nature Communications 14(1):6934 (2023)
Allele C
OR 0.12
p 4.0e-12
N 7,172
Large GWAS
European
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ClinVar annotation

Benign★★★☆
3 submitters1 publication

Congenital generalized lipodystrophy type 1; not provided

View on ClinVar →

About AGPAT2

This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

View all AGPAT2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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